L18V (p.Leu18Val) variant of SOX9 (Transcription factor SOX-9)
L18V (p.Leu18Val) in SOX9 (Transcription factor SOX-9) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
L18V (p.Leu18Val) variant details
- p.Leu18Val
- gnomAD 17-72121443-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.45
- REVEL 0.33
- MetaLR 0.82
- MetaSVM 0.32
- CADD 20.10
- PolyPhen-2 0.01
- SIFT 0.07
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available